Marfanoid habitus-autosomal recessive intellectual disability syndrome

Orpha code: 2463OMIM code: 248770

Definition

A rare multiple congenital anomalies/dysmorphic syndrome characterized by intellectual disability, psychomotor retardation, flat face and some features resembling Marfan syndrome, such as tall stature, dolichostenomelia, arm span larger than height, arachnodactyly of hands and feet, little subcutaneous fat, and muscle hypotonia. There have been no further descriptions in the literature since 1984.

Disease data
Classification

Malformation syndrome

Synonyms
Fragoso-Cantú syndrome
ORPHA code
2463
OMIM code
248770
ICD10 code
Q87.8
ICD11 code
-

No additional description.

Orphanet - interntowa baza danych dotyczących rzadkich chorób i sierochych leków. ©INSERM 1999 - Dostępna na stronie www.orphanet.pl